Paralogue Annotation for KCNE1 residue 48

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 48
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE1 residue 48

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNE2M54TCardiac arrhythmiaMedium9 10219239, 19716085, 20042375, 22378279, 23631727, 24631769, 25333069, 24569893, 25637381, 26159999, 26859003

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNE1.

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See full Alignment of Paralogues

Known Variants in KCNE1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L48Fc.142C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging